143 results found
Quail MA, Ho Y, Daubeney PEF, 2017, Vascular rings, Pulmonary Slings and Other Vascular Abnormalities, Diagnosis and Management of Adult Congenital heart Disease, Editors: Gatzoulis, Webb, Daubeney, ISBN: 978-0-7020-6929-1
rea G, Homfray T, Till J, et al., 2016, Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11, Cold Spring Harbor Molecular Case Studies, Vol: 3, ISSN: 2373-2873
Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88*]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related).
Sifrim A, Hitz M-P, Wilsdon A, et al., 2016, Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing, Nature Genetics, Vol: 48, Pages: 1060-1065, ISSN: 1061-4036
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%)3, suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance4, 5. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations6, 7. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings8. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.
Schofield SJ, Doughty VL, van Stiphout N, et al., 2016, Assisted conception and the risk of CHD: a case-control study, Cardiology in the Young, Vol: 27, Pages: 473-479, ISSN: 1467-1107
Epidemiological studies suggest a higher prevalence of congenital malformations in children conceived through assisted reproductive technologies. There are a few studies that address CHD specifically and most have examined data from registries. We examined the relationship between CHD and assisted conception using data collected in a specialist paediatric cardiac service in the United Kingdom. Between April, 2010 and July, 2011, the parents of children attending paediatric cardiology clinics at the Royal Brompton Hospital, London, were invited to complete a questionnaire that enquired about the nature of their child's conception, the route for their original referral, and a number of potential confounding exposures. "Cases" were defined as children diagnosed with one or more carefully defined CHDs and "controls" as those with normal hearts. Of 894 new attendees with complete data, half of them were cases (n=410, 45.9%). The overall prevalence of assisted conception was 5.4% (n=44). Logistic regression analysis demonstrated a non-significant increase in the crude odds for the use of assisted reproduction (odds ratio 1.21, 95% confidence interval 0.66-2.22) in this group. After adjustment for gestation, parity, year of birth, and maternal age, the odds ratio reduced (odds ratio 0.95, 95% confidence interval 0.48-1.88). Increased rates of assisted conception were observed in a number of CHD subgroups, although no significant differences were found. These findings do not suggest an overall association between CHD and assisted reproduction in this population.
Delle Donne G, Prasad S, Kimberley P, et al., 2016, SUDDEN CARDIAC DEATH IN CHILDHOOD, 65th Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: ELSEVIER SCIENCE INC, Pages: 812-812, ISSN: 0735-1097
Delle Donne G, Roses-Noguer F, Till J, et al., 2016, IVABRADINE IN THE PAEDIATRIC POPULATION: PRELIMINARY FINDINGS, 65th Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: ELSEVIER SCIENCE INC, Pages: 774-774, ISSN: 0735-1097
Delle Donne G, Prasad S, Kimberley P, et al., 2016, SUDDEN CARDIAC DEATH IN CHILDHOOD, Annual Meeting of the British-Congenital-Cardiac-Association, Publisher: BMJ PUBLISHING GROUP, Pages: A4-A4, ISSN: 1355-6037
Rea G, Ware JS, Homfray T, et al., 2016, HISTIOCYTOID CARDIOMYOPATHY AND MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME: PHENOTYPES LINKED BY TRUNCATING VARIANTS IN NDUFB11, Annual Meeting of the British-Congenital-Cardiac-Association, Publisher: BMJ PUBLISHING GROUP, Pages: A18-A18, ISSN: 1355-6037
Tregay J, Wray J, Crowe S, et al., 2016, Going home after infant cardiac surgery: a UK qualitative study, Archives of Disease in Childhood, Vol: 101, Pages: 320-325, ISSN: 0003-9888
Objective To qualitatively assess the discharge processes and postdischarge care in the community for infants discharged after congenital heart interventions in the first year of life.Design Qualitative study using semistructured interviews and Framework Analysis.Setting UK specialist cardiac centres and the services their patients are discharged to.Subjects Twenty-five cardiologists and nurses from tertiary centres, 11 primary and secondary health professionals and 20 parents of children who had either died after discharge or had needed emergency readmission.Results Participants indicated that going home with an infant after cardiac intervention represents a major challenge for parents and professionals. Although there were reported examples of good care, difficulties are exacerbated by inconsistent pathways and potential loss of information between the multiple teams involved. Written documentation from tertiary centres frequently lacks crucial contact information and contains too many specialist terms. Non-tertiary professionals and parents may not hold the information required to respond appropriately when an infant deteriorates, this contributing to the stressful experience of managing these infants at home. Where they exist, the content of formal ‘home monitoring pathways’ varies nationally, and families can find this onerous.Conclusions Service improvements are needed for infants going home after cardiac intervention in the UK, focusing especially on enhancing mechanisms for effective transfer of information outside the tertiary centre and processes to assist with monitoring and triage of vulnerable infants in the community by primary and secondary care professionals. At present there is no routine audit for this stage of the patient journey.
Seale AN, Daubeney PEF, 2015, Pulmonary vein stenosis—novel strategies for a challenging and resistant condition?, Journal of Thoracic and Cardiovascular Surgery, Vol: 151, Pages: 618-620, ISSN: 1097-685X
Bharucha T, Lee KJ, Daubeney PEF, et al., 2015, Sudden Death in Childhood Cardiomyopathy Results From a Long-Term National Population-Based Study, JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, Vol: 65, Pages: 2302-2310, ISSN: 0735-1097
Tregay J, Wray J, Bull C, et al., 2015, Unexpected deaths and unplanned re-admissions in infants discharged home after cardiac surgery: a systematic review of potential risk factors, CARDIOLOGY IN THE YOUNG, Vol: 25, Pages: 839-852, ISSN: 1047-9511
Bo I, Daubeney PEF, Rigby ML, 2015, Uncommon variants of the scimitar syndrome in two siblings, ANNALS OF PEDIATRIC CARDIOLOGY, Vol: 8, Pages: 56-58, ISSN: 0974-2069
Jivanji SGM, Daubeney P, Franklin R, et al., 2014, Right ventricular cavity near obliteration in neonatal severe biventricular hypertrophic cardiomyopathy., BMJ Case Rep, Vol: 2014
A newborn presenting with cyanosis at day 9 of life was admitted to the local hospital. Initial local echocardiography confirmed a cardiac issue and the patient was transferred to a tertiary cardiac hospital. Further imaging confirmed a rare presentation of cardiomyopathy with severe right ventricular outflow tract obstruction. Surgery was performed but with postoperative haemodynamic instability complicated by incessant ventricular tachycardia. Following discussion with the family, care was withdrawn. Postmortem demonstrated a rare form of hypertrophic cardiomyopathy with right ventricular outflow tract obstruction not previously described in a neonate.
Mitchell FM, Raphael CE, Petryka J, et al., 2014, Cardiovascular magnetic resonance versus echocardiography in measurement of left ventricular wall thickness in paediatric patients with known or suspected hypertrophic cardiomyopathy, Annual Meeting of the European-Society-of-Cardiology (ESC), Publisher: OXFORD UNIV PRESS, Pages: 799-800, ISSN: 0195-668X
Knowles RL, Day T, Wade A, et al., 2014, Patient-reported quality of life outcomes for children with serious congenital heart defects., Arch Dis Child, Vol: 99, Pages: 413-419
OBJECTIVE: To compare patient-reported, health-related quality of life (QoL) for children with serious congenital heart defects (CHDs) and unaffected classmates and to investigate the demographic and clinical factors influencing QoL. DESIGN: Retrospective cohort study. SETTING: UK National Health Service. PATIENTS: UK-wide cohort of children with serious CHDs aged 10-14 years requiring cardiac intervention in the first year of life in one of 17 UK paediatric cardiac surgical centres operating during 1992-1995. A comparison group of classmates of similar age and sex was recruited. MAIN OUTCOME MEASURES: Child self-report of health-related QoL scores (Pediatric Quality of Life Inventory, PedsQL) and parental report of schooling and social activities. RESULTS: Questionnaires were completed by 477 children with CHDs (56% boys; mean age 12.1 (SD 1.0) years) and 464 classmates (55%; 12.0 (SD 1.1) years). Children with CHDs rated QoL significantly lower than classmates (CHDs: median 78.3 (IQR 65.0-88.6); classmates: 88.0 (80.2-94.6)) and scored lower on physical (CHDs: 84.4; classmates: 93.8; difference 9.4 (7.8 to 10.9)) and psychosocial functioning subscales (CHDs: 76.7, classmates: 85.0; difference 8.3 (6.0 to 10.6)). Cardiac interventions, school absence, regular medications and non-cardiac comorbidities were independently associated with reduced QoL. Participation in sport positively influenced QoL and was associated with higher psychosocial functioning scores. CONCLUSIONS: Children with serious CHDs experience lower QoL than unaffected classmates. This appears related to the burden of clinical intervention rather than underlying cardiac diagnosis. Participation in sports activities is positively associated with increased emotional well-being. Child self-report measures of QoL would be a valuable addition to clinical outcome audit in this age group.
Petryka J, Quyam S, Smith B, et al., 2014, PROGNOSTIC SIGNIFICANCE OF CARDIOVASCULAR MAGNETIC RESONANCE FEATURE TRACKING DERIVED CIRCUMFERENTIAL STRAIN IN CHILDREN UNDERGOING FAMILY SCREENING AND PAEDIATRIC PATIENTS WITH SUSPECTED CARDIOMYOPATHY, JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, Vol: 63, Pages: A1038-A1038, ISSN: 0735-1097
Petryka J, Raphael C, Quyam S, et al., 2014, THE PROGNOSTIC UTILITY OF MYOCARDIAL FIBROSIS IN PEDIATRIC CARDIOMYOPATHY SERVICE, JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, Vol: 63, Pages: A1040-A1040, ISSN: 0735-1097
Alexander PMA, Daubeney PEF, Nugent AW, et al., 2013, Long-Term Outcomes of Dilated Cardiomyopathy Diagnosed During Childhood Results From a National Population-Based Study of Childhood Cardiomyopathy, CIRCULATION, Vol: 128, Pages: 2039-2046, ISSN: 0009-7322
Abdul Haium AA, Sheppard M, Rubens M, et al., 2013, Catastrophic antiphospholipid syndrome in childhood: presentation with an inferior caval vein mass., BMJ Case Rep, Vol: 2013
Venous thromboembolism remains one of the important causes of pulmonary hypertension in children. The causes of venous thromboembolism are varied and include antiphospholipid antibody syndrome (APS). Catastrophic APS (CAPS) is a severe variant of APS characterised by disseminated thrombosis and microangiopathy resulting in multiorgan failure. CAPS can occur independently (primary APS) but mainly occurs in association with systemic lupus erythematosus including the paediatric population. We report a young girl with primary CAPS who presented with pulmonary hypertension and an inferior vena cava mass masquerading as a tumour.
Seale AN, Uemura H, Webber SA, et al., 2013, Total anomalous pulmonary venous connection: Outcome of postoperative pulmonary venous obstruction, JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY, Vol: 145, Pages: 1255-1262, ISSN: 0022-5223
Loup O, Daubeney PEF, Saggar A, et al., 2013, Severe Arterial Tortuosity in an Asymptomatic Infant With Coarctation, CIRCULATION-CARDIOVASCULAR IMAGING, Vol: 6, Pages: 487-490, ISSN: 1941-9651
Surgical repair of pulmonary artery (PA) branches encompasses many different clinical scenarios and technical challenges. The most common, such as bifurcation and central PA reconstruction, are described, as well as the challenges of complex and peripheral reconstruction.
Seale AN, Carvalho JS, Gardiner HM, et al., 2012, Total anomalous pulmonary venous connection: impact of prenatal diagnosis, ULTRASOUND IN OBSTETRICS & GYNECOLOGY, Vol: 40, Pages: 310-318, ISSN: 0960-7692
Thirty-four authors, 2012, Pediatric Heart Disease: A Practical Guide, Publisher: BMJ Books, ISBN: 9781444360950
Pediatric Heart Disease: A Practical Guide, First Edition. Piers E. F. Daubeney, Michael L. Rigby, Koichiro Niwa, and Michael A.
Daubeney PEF, Alexander P, Nugent A, et al., 2012, SURVIVAL AND REVERSE CARDIAC REMODELLING IN CHILDHOOD DILATED CARDIOMYOPATHY (DCM): RESULTS FROM A LONG-TERM NATIONAL POPULATION-BASED STUDY, 61st Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: ELSEVIER SCIENCE INC, Pages: E1580-E1580, ISSN: 0735-1097
Daubeney PEF, Van Stiphout N, Schofield S, et al., 2012, ASSISTED CONCEPTION AND THE RISK OF CONGENITAL HEART DISEASE: A CASE CONTROL STUDY, 61st Annual Scientific Session and Expo of the American-College-of-Cardiology (ACC), Publisher: ELSEVIER SCIENCE INC, Pages: E768-E768, ISSN: 0735-1097
Chubb H, Daubeney PEF, 2012, Pulmonary Atresia with Intact Ventricular Septum, Pediatric Cardiovascular Medicine, Editors: Moller, Hoffman, Publisher: Wiley-Blackwell, ISBN: 9781444335897
Pulmonary Atresia with Intact Ventricular Septum. Henry Chubb, Piers E. F. Daubeney. Pediatric Cardiovascular Medicine, Second Edition. Edited by James H. Moller and Julien ...
Naqvi N, Davidson SJ, Wong D, et al., 2011, Predicting 22q11.2 deletion syndrome: A novel method using the routine full blood count, INTERNATIONAL JOURNAL OF CARDIOLOGY, Vol: 150, Pages: 50-53, ISSN: 0167-5273
Weintraub RG, Nugent AW, Davis A, et al., 2011, Presentation, Echocardiographic Findings and Long-Term Outcomes in Children with Familial Dilated Cardiomyopathy, Progress in Pediatric Cardiology, Vol: 31, Pages: 119-122
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